Variant report

Variant	nsv537078
Chromosome Location	chr4:47059778-47137372
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:47102874..47105061-chr4:47116101..47117878,2	K562	blood:
2	chr4:47090523..47092982-chr4:47093713..47096101,2	K562	blood:
3	chr4:47072725..47074319-chr4:47086476..47088590,2	K562	blood:
4	chr4:47090523..47092982-chr4:47093713..47096101,2	K562	blood:
5	chr4:47102874..47105061-chr4:47116101..47117878,2	K562	blood:
6	chr4:46939236..46940006-chr4:47124315..47124979,2	MCF-7	breast:
7	chr4:47072725..47074319-chr4:47086476..47088590,2	K562	blood:

Extended variants
information (count: 2086 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:2086 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77092356	chr4:47059782-47059783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs80159111	chr4:47059807-47059808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116605512	chr4:47059826-47059827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568950771	chr4:47059827-47059828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529797452	chr4:47059842-47059843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs139418404	chr4:47059848-47059849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573406017	chr4:47059899-47059900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs144082788	chr4:47059917-47059918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534047412	chr4:47059942-47059943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540281959	chr4:47059994-47059995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs112689701	chr4:47060092-47060093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs144054809	chr4:47060115-47060116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs111462158	chr4:47060140-47060141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570280251	chr4:47060163-47060164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs537635880	chr4:47060248-47060249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs555970904	chr4:47060338-47060339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188281791	chr4:47060339-47060340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs575322332	chr4:47060363-47060364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs191550456	chr4:47060378-47060379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554898063	chr4:47060395-47060396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs573176204	chr4:47060477-47060478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs540886324	chr4:47060513-47060514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs375619126	chr4:47060514-47060515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs565562454	chr4:47060547-47060548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs148530085	chr4:47060559-47060560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs182721210	chr4:47060601-47060602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563117222	chr4:47060603-47060604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561426706	chr4:47060614-47060615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565046931	chr4:47060709-47060710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547983996	chr4:47060780-47060781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs78665078	chr4:47060825-47060826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187072183	chr4:47060917-47060918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs116066686	chr4:47060946-47060947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570393807	chr4:47060947-47060948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537796520	chr4:47060960-47060961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549522257	chr4:47060961-47060962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs28445606	chr4:47060966-47060967	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs536720168	chr4:47060982-47060983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116502995	chr4:47061118-47061119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573321787	chr4:47061159-47061160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533918877	chr4:47061194-47061195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142887355	chr4:47061222-47061223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577601384	chr4:47061249-47061250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75912167	chr4:47061275-47061276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191451389	chr4:47061347-47061348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574955837	chr4:47061367-47061368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541877908	chr4:47061393-47061394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572936608	chr4:47061422-47061423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs79490579	chr4:47061442-47061443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs527410838	chr4:47061446-47061447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Olfactory neuroblastoma	18408657	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	16616336	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Renal cell carcinoma	18765545	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:227 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:47053600-47061800	Weak transcription	Brain Angular Gyrus	brain
2	chr4:47054000-47067000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr4:47054400-47066800	Weak transcription	Brain Hippocampus Middle	brain
4	chr4:47054600-47063600	Weak transcription	Brain Anterior Caudate	brain
5	chr4:47054600-47066800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr4:47054600-47075600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr4:47055400-47059800	Weak transcription	Fetal Heart	heart
8	chr4:47059400-47060600	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr4:47059800-47060400	Enhancers	Hela-S3	cervix
10	chr4:47059800-47060600	Enhancers	Fetal Heart	heart
11	chr4:47062600-47062800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr4:47062800-47064000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:47063200-47063800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr4:47063200-47064200	Enhancers	NH-A	brain
15	chr4:47063200-47064200	Enhancers	Osteobl	bone
16	chr4:47063600-47064000	Flanking Active TSS	Brain Anterior Caudate	brain
17	chr4:47063800-47071200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr4:47064000-47064200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr4:47064000-47064200	Enhancers	Brain Anterior Caudate	brain
20	chr4:47064200-47065000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr4:47064200-47065000	Weak transcription	Osteobl	bone
22	chr4:47064200-47066800	Weak transcription	Brain Anterior Caudate	brain
23	chr4:47064200-47073000	Weak transcription	NH-A	brain
24	chr4:47065000-47065200	Enhancers	Osteobl	bone
25	chr4:47065000-47065400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr4:47065200-47070600	Weak transcription	Osteobl	bone
27	chr4:47065400-47073200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr4:47066000-47069400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr4:47066600-47068400	Enhancers	Fetal Lung	lung
30	chr4:47066800-47067200	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr4:47066800-47067200	Enhancers	Brain Substantia Nigra	brain
32	chr4:47066800-47067400	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr4:47066800-47067800	Enhancers	Brain Anterior Caudate	brain
34	chr4:47066800-47068200	Enhancers	Brain Hippocampus Middle	brain
35	chr4:47067000-47067600	Enhancers	Brain Cingulate Gyrus	brain
36	chr4:47067200-47067600	Weak transcription	Brain Substantia Nigra	brain
37	chr4:47067200-47068000	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr4:47067600-47067800	Enhancers	Brain Substantia Nigra	brain
39	chr4:47067600-47076800	Weak transcription	Brain Cingulate Gyrus	brain
40	chr4:47067800-47069000	Weak transcription	Brain Anterior Caudate	brain
41	chr4:47067800-47069200	Weak transcription	Brain Substantia Nigra	brain
42	chr4:47068000-47068200	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr4:47068200-47078000	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr4:47068400-47071000	Weak transcription	Fetal Lung	lung
45	chr4:47069000-47069400	Enhancers	Brain Anterior Caudate	brain
46	chr4:47069200-47069400	Enhancers	Brain Substantia Nigra	brain
47	chr4:47069400-47073400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr4:47069400-47073400	Weak transcription	Brain Anterior Caudate	brain
49	chr4:47070600-47071800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr4:47070600-47071800	Enhancers	Osteobl	bone

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